Activity
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2 actions
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| DDG2P v6.17 | PHEX | Achchuthan Shanmugasundram reviewed gene: PHEX: Rating: GREEN; Mode of pathogenicity: ; Publications: 18252791, 37059315, 2894375, 15029877, 35896147, 38722819, 39710377, 34633109, 39877728, 16055933, 32329911; Phenotypes: PHEX-related hypophosphatemic rickets, MONDO:0010619, OMIM:307800.0; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | PHEX |
Achchuthan Shanmugasundram gene: PHEX was added gene: PHEX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PHEX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PHEX were set to 2894375; 18252791; 15029877; 39877728; 39710377; 16055933; 34633109; 32329911; 38722819; 35896147; 37059315 Phenotypes for gene: PHEX were set to MONDO:0010619; PHEX-related hypophosphatemic rickets; OMIM:307800.0 |
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